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Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit

Orpha number ORPHA2773
Synonym(s) Al Gazali-Nair syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Unknown
Age of onset Neonatal/infancy
ICD-10
  • Q87.5
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.

Expert reviewer(s)

  • Pr R.C.M. [Raoul] HENNEKAM
Last update: December 2006

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